[
  {
    "phenotype_id": "PH1717",
    "phenotype_version_id": 3973,
    "name": "Dementia Identification with EMR",
    "definition": "The major data sources for identification of dementia cases in the UK comprise EMRhospitalisationdata,\ndeath records and dispensed prescribing records. From thesesources, we categoriseany\ndementia into the following clinicopathological subtypes:Alzheimer's dementia,Vascular\ndementia, Other dementia (any dementia type otherthan Alzheimer's or Vascular),Unspecified\ndementia (where a specific sub-type isnot recorded) and Possible dementia(where the\ndiagnosis is not clear for it to definitivelybe dementia). For individualswith dementia,\nthe earliest date of mention of dementia(in any of the sources) istaken as a surrogate\nfor the incident date of dementia.\n\nFor more information about the phenotype, please refer to linked publications.\n",
    "implementation": "We use a combination of ICD-10 codes (for hospitalisation and death records) andBNFcodes\n(prescribing records) to adjudicate dementia sub-type as listed in theconceptlist\nbelow. With regards to prescriptions, given that in the UK, medicationsfor dementia(donepezil\nhydrochloride, galantamine, rivastigmine, and memantine hydrochloride)arelargely\nindicated for individuals with Alzheimer dementia, a history of redeemingaprescription\nfor one of these drugs can be considered indicative of a diagnosisofAlzheimer's.\n\nGiven the longitudinal nature of our records, we make use of the entire patient historytodetermine\na distribution over dementia sub-types (if any). Specifically, we summariseeachpatient's\ncoding episode into a binary indication of whether each dementia subtype(Alzheimer's,Vascular,\nOther, Unspecified or Possible) is mentioned or not. Foreach patient, wethen count\nthe number of coding episodes for each subtype and divideit by the totalnumber of\ncoding episodes over all subtypes, to yield a proportion(probability) overdementia\nsubtypes for that patient - if the patient has no evidenceof dementia, thenthis proportion\nis taken to be all 0s. Subsequently, for dementiasubjects, the earliestdate of mention\nof dementia (in any of the sources) is takenas a surrogate for theincident date of\ndementia, while the last date on record fora non-dementia patientis taken to be the\nlast date of follow-up for that subject.\n\nFor more detail on implementation, please refer to linked publications.\n",
    "publications": [
      {
        "doi": "10.2337/dc19-0380",
        "details": "Doney ASF, Bonney W, Jefferson E, Walesby KE, Bittern R, Trucco E, Connelly P, McCrimmon RJ, Palmer CNA. Investigating the Relationship Between Type 2 Diabetes and Dementia Using Electronic Medical Records in the GoDARTS Bioresource. Diabetes Care. 2019 Oct;42(10):1973-1980. doi: 10.2337/dc19-0380. Epub 2019 Aug 7. PMID: 31391202.",
        "primary": 1
      }
    ],
    "validation": "This design has been validated using both out-patient Psychiatry of Old Age clinicaldiagnosesand\na polygenic risk score for Alzheimer’s disease, in GoDARTS (Geneticsof DiabetesAudit\nand Researchin Tayside Scotland). Through the use of outpatientreferral data,all\nGoDARTS participantswho had been referred to outpatient clinicsfor Psychiatryof Old\nAge (POA) wereidentified. A research nurse (R.B.) reviewedthe case notes underthe\nsupervisionof a POA consultant (P.C.) and a consultant cerebrovascularphysician(A.S.F.D.).Information\nrelating to the final diagnosis and date was thenreincorporatedintothe anonymised\nEMR and contributed to the total dementia cases.These data werealsoused to validate\nthe cases derived from the hospitalisation anddeath data andprescribingdata where\nindividuals had both an EMR-derived diagnosisand a validationdata–deriveddiagnosis.\nSensitivity, specificity, accuracy (correctlyclassified),and the positivepredictive\nvalue (PPV) of the EMR-derived cases werecompared withthe validationdata diagnosis.\n\nFor those individuals with available genome-wide data, 20 confirmed POE4-independentAlzheimerdiseasesusceptibility\nsingle nucleotide polymorphisms (SNPs) previouslyidentifiedby theInternational Genomics\nof Alzheimer’s Project (IGAP) were usedto constructa weightedgenetic risk score\n(wGRS) by weighting each effect allelewith the naturallog of thepublished odds ratio\nand summing the values for eachSNP for each individual.The meanavailable SNPs per\nindividual was 16.4 (SD 6.3),median 19 (interquartilerange 18–20).Missing genotypes\nwere imputed with twotimes effect allele frequencyin the studypopulation, providing\na probabilisticvalue and allowing a full scoreto be determinedfor all individuals\nwith genotyping.The wGRS was z-transformed suchthat each unitstep in the score comprised\n1 SD ofthe overall score.\n\nWhile the E4 allele of APOE is a major risk factor for Alzheimer disease, it is alsoassociatedwithvascular\ndementia. Therefore, for further validation we also determinedthe associationofthe\nAPOE4 allele with dementia outcomes using the well-establishedSNP, rs429358,whichdefines\nthe APOE4 allele at the APOE locus.\n\nFor detailed validation results and statistics, please refer to linked publications.\n",
    "citation_requirements": "",
    "created": "2025-02-13T13:54:01.440998Z",
    "author": "Doney ASF, Bonney W, Jefferson E, Walesby KE, Bittern R, Trucco E, Connelly P, McCrimmon RJ, Palmer CNA, Camilleri MPJ, Reel PS, Whiteley W",
    "collections": null,
    "tags": null,
    "organisation": null,
    "world_access": 2,
    "updated": "2025-06-11T16:15:33.700399Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "ontology": [
      {
        "name": "dementia",
        "value": 3823,
        "reference_id": "MONDO:0001627"
      }
    ],
    "phenoflowid": "",
    "data_sources": [
      {
        "name": "General Acute Inpatient and Day Case - Scottish Morbidity Record (SMR01)",
        "value": 17,
        "uid": "98cda353-0011-45b2-80ca-4ed24cd084bf",
        "url": "https://healthdatagateway.org/en/dataset/74",
        "datasource_id": 74
      },
      {
        "name": "Mental Health Inpatient and Day Case - Scottish Morbidity Record (SMR04)",
        "value": 219,
        "uid": "24de9d1a-1f48-4c10-b8fc-a3bd7449e191",
        "url": "https://healthdatagateway.org/en/dataset/85",
        "datasource_id": 85
      },
      {
        "name": "National Records of Scotland (NRS) - Deaths Data",
        "value": 334,
        "uid": "e600dae2-a83c-4b7a-8d23-af4ac31ca374",
        "url": "https://healthdatagateway.org/en/dataset/64",
        "datasource_id": 64
      },
      {
        "name": "Prescribing Information System (PIS)",
        "value": 390,
        "uid": "22e3943e-edb5-44a1-9e4e-22b0f7a31767",
        "url": "https://healthdatagateway.org/en/dataset/69",
        "datasource_id": 69
      }
    ],
    "coding_system": [
      {
        "name": "BNF codes",
        "value": 11
      },
      {
        "name": "ICD10 codes",
        "value": 4
      }
    ],
    "event_date_range": "",
    "concept_information": [
      {
        "concept_id": 4185,
        "concept_version_id": 11545,
        "concept_name": "Alzheimer's dementia",
        "coding_system": {
          "id": 11,
          "name": "BNF codes",
          "description": "BNF codes"
        },
        "phenotype_id": "PH1717",
        "phenotype_version_id": 3973,
        "phenotype_name": "Dementia Identification with EMR",
        "code_attribute_header": null,
        "codes": [
          {
            "code": "0411000D0AAAAAA",
            "description": "Donepezil 5mg tablets",
            "attributes": null
          },
          {
            "code": "0411000D0AAABAB",
            "description": "Donepezil 10mg tablets",
            "attributes": null
          },
          {
            "code": "0411000D0AAADAD",
            "description": "Donepezil 5mg orodispersible tablets sugar free",
            "attributes": null
          },
          {
            "code": "0411000D0AAAEAE",
            "description": "Donepezil 10mg orodispersible tablets sugar free",
            "attributes": null
          },
          {
            "code": "0411000D0AAAFAF",
            "description": "Donepezil 10mg/5ml oral suspension",
            "attributes": null
          },
          {
            "code": "0411000D0AAAHAH",
            "description": "Donepezil 5mg orodispersible tablets",
            "attributes": null
          },
          {
            "code": "0411000D0AAAIAI",
            "description": "Donepezil 10mg orodispersible tablets",
            "attributes": null
          },
          {
            "code": "0411000D0AAAJAJ",
            "description": "Donepezil 1mg/ml oral solution sugar free",
            "attributes": null
          },
          {
            "code": "0411000D0BBAAAA",
            "description": "Aricept 5mg tablets",
            "attributes": null
          },
          {
            "code": "0411000D0BBABAB",
            "description": "Aricept 10mg tablets",
            "attributes": null
          },
          {
            "code": "0411000D0BBACAD",
            "description": "Aricept Evess 5mg orodispersible tablets",
            "attributes": null
          },
          {
            "code": "0411000D0BBADAE",
            "description": "Aricept Evess 10mg orodispersible tablets",
            "attributes": null
          },
          {
            "code": "0411000D0BCAAAD",
            "description": "Apozyl 5mg orodispersible tablets",
            "attributes": null
          },
          {
            "code": "0411000D0BCABAE",
            "description": "Apozyl 10mg orodispersible tablets",
            "attributes": null
          },
          {
            "code": "0411000E0AAAAAA",
            "description": "Rivastigmine 1.5mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0AAABAB",
            "description": "Rivastigmine 3mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0AAACAC",
            "description": "Rivastigmine 4.5mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0AAADAD",
            "description": "Rivastigmine 6mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0AAAEAE",
            "description": "Rivastigmine 2mg/ml oral solution sugar free",
            "attributes": null
          },
          {
            "code": "0411000E0AAAFAF",
            "description": "Rivastigmine 4.6mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0AAAGAG",
            "description": "Rivastigmine 9.5mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0AAAHAH",
            "description": "Rivastigmine 2mg/ml oral solution",
            "attributes": null
          },
          {
            "code": "0411000E0AAAIAI",
            "description": "Rivastigmine 13.3mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BBAAAA",
            "description": "Exelon 1.5mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BBABAB",
            "description": "Exelon 3mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BBACAC",
            "description": "Exelon 4.5mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BBADAD",
            "description": "Exelon 6mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BBAEAE",
            "description": "Exelon 2mg/ml oral solution",
            "attributes": null
          },
          {
            "code": "0411000E0BBAFAF",
            "description": "Exelon 4.6mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BBAGAG",
            "description": "Exelon 9.5mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BBAHAI",
            "description": "Exelon 13.3mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BCAAAA",
            "description": "Nimvastid 1.5mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BCABAB",
            "description": "Nimvastid 3mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BCACAC",
            "description": "Nimvastid 4.5mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BCADAD",
            "description": "Nimvastid 6mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BDAAAA",
            "description": "Kerstipon 1.5mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BDABAB",
            "description": "Kerstipon 3mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BDACAC",
            "description": "Kerstipon 4.5mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BDADAD",
            "description": "Kerstipon 6mg capsules",
            "attributes": null
          },
          {
            "code": "0411000E0BEAAAF",
            "description": "Voleze 4.6mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BEABAG",
            "description": "Voleze 9.5mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BEACAI",
            "description": "Voleze 13.3mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BFAAAF",
            "description": "Erastig 4.6mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BFABAG",
            "description": "Erastig 9.5mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BFACAI",
            "description": "Erastig 13.3mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BGAAAF",
            "description": "Alzest 4.6mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BGABAG",
            "description": "Alzest 9.5mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BGACAI",
            "description": "Alzest 13.3mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BHAAAG",
            "description": "Prometax 9.5mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BHABAF",
            "description": "Prometax 4.6mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BIAAAF",
            "description": "Somniton 4.6mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BIABAG",
            "description": "Somniton 9.5mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BJAAAF",
            "description": "Eluden 4.6mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BJABAG",
            "description": "Eluden 9.5mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BKAAAF",
            "description": "Almuriva 4.6mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BKABAG",
            "description": "Almuriva 9.5mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BKACAI",
            "description": "Almuriva 13.3mg/24hours transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BLAAAF",
            "description": "Zeyzelf 4.6mg/24hours twice weekly transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000E0BLABAG",
            "description": "Zeyzelf 9.5mg/24hours twice weekly transdermal patches",
            "attributes": null
          },
          {
            "code": "0411000F0AAAAAA",
            "description": "Galantamine 4mg tablets",
            "attributes": null
          },
          {
            "code": "0411000F0AAABAB",
            "description": "Galantamine 8mg tablets",
            "attributes": null
          },
          {
            "code": "0411000F0AAACAC",
            "description": "Galantamine 12mg tablets",
            "attributes": null
          },
          {
            "code": "0411000F0AAADAD",
            "description": "Galantamine 20mg/5ml oral solution sugar free",
            "attributes": null
          },
          {
            "code": "0411000F0AAAEAE",
            "description": "Galantamine 8mg modified-release capsules",
            "attributes": null
          },
          {
            "code": "0411000F0AAAFAF",
            "description": "Galantamine 16mg modified-release capsules",
            "attributes": null
          },
          {
            "code": "0411000F0AAAGAG",
            "description": "Galantamine 24mg modified-release capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BBAAAA",
            "description": "Reminyl 4mg tablets",
            "attributes": null
          },
          {
            "code": "0411000F0BBABAB",
            "description": "Reminyl 8mg tablets",
            "attributes": null
          },
          {
            "code": "0411000F0BBACAC",
            "description": "Reminyl 12mg tablets",
            "attributes": null
          },
          {
            "code": "0411000F0BBAEAD",
            "description": "Reminyl 4mg/ml oral solution",
            "attributes": null
          },
          {
            "code": "0411000F0BBAFAE",
            "description": "Reminyl XL 8mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BBAGAF",
            "description": "Reminyl XL 16mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BBAHAG",
            "description": "Reminyl XL 24mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BCAAAE",
            "description": "Galsya XL 8mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BCABAF",
            "description": "Galsya XL 16mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BCACAG",
            "description": "Galsya XL 24mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BDAAAF",
            "description": "Zeebral XL 16mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BDABAG",
            "description": "Zeebral XL 24mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BDACAE",
            "description": "Zeebral XL 8mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BEAAAE",
            "description": "Acumor XL 8mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BEABAF",
            "description": "Acumor XL 16mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BEACAG",
            "description": "Acumor XL 24mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BFAAAE",
            "description": "Gatalin XL 8mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BFABAF",
            "description": "Gatalin XL 16mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BFACAG",
            "description": "Gatalin XL 24mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BGAAAE",
            "description": "Lotprosin XL 8mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BGABAF",
            "description": "Lotprosin XL 16mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BGACAG",
            "description": "Lotprosin XL 24mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BHAAAG",
            "description": "Elmino XL 24mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BHABAF",
            "description": "Elmino XL 16mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BHACAE",
            "description": "Elmino XL 8mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BIAAAE",
            "description": "Galzemic XL 8mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BIABAF",
            "description": "Galzemic XL 16mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BIACAG",
            "description": "Galzemic XL 24mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BIADAD",
            "description": "Galzemic 4mg/ml oral solution",
            "attributes": null
          },
          {
            "code": "0411000F0BJAAAE",
            "description": "Luventa XL 8mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BJABAF",
            "description": "Luventa XL 16mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BJACAG",
            "description": "Luventa XL 24mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BKAAAE",
            "description": "Gazylan XL 8mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BKABAF",
            "description": "Gazylan XL 16mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BKACAG",
            "description": "Gazylan XL 24mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BLAAAE",
            "description": "Consion XL 8mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BLABAF",
            "description": "Consion XL 16mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BLACAG",
            "description": "Consion XL 24mg capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BMAAAE",
            "description": "Gaalin 8mg modified-release capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BMABAF",
            "description": "Gaalin 16mg modified-release capsules",
            "attributes": null
          },
          {
            "code": "0411000F0BMACAG",
            "description": "Gaalin 24mg modified-release capsules",
            "attributes": null
          },
          {
            "code": "0411000G0AAAAAA",
            "description": "Memantine 10mg tablets",
            "attributes": null
          },
          {
            "code": "0411000G0AAABAB",
            "description": "Memantine 10mg/ml oral solution sugar free",
            "attributes": null
          },
          {
            "code": "0411000G0AAADAD",
            "description": "Memantine 20mg tablets",
            "attributes": null
          },
          {
            "code": "0411000G0AAAEAE",
            "description": "Memantine 5mg/10mg/15mg/20mg tabs treatment initiation pack",
            "attributes": null
          },
          {
            "code": "0411000G0AAAFAF",
            "description": "Memantine 10mg orodispersible tablets sugar free",
            "attributes": null
          },
          {
            "code": "0411000G0AAAGAG",
            "description": "Memantine 20mg orodispersible tablets sugar free",
            "attributes": null
          },
          {
            "code": "0411000G0AAAHAH",
            "description": "Memantine 10mg soluble tablets sugar free",
            "attributes": null
          },
          {
            "code": "0411000G0AAAIAI",
            "description": "Memantine 20mg soluble tablets sugar free",
            "attributes": null
          },
          {
            "code": "0411000G0AAAJAJ",
            "description": "Memantine 5mg/10mg/15mg/20mg orodispersible initiation pack",
            "attributes": null
          },
          {
            "code": "0411000G0AAAKAK",
            "description": "Memantine 5mg orodispersible tablets sugar free",
            "attributes": null
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          {
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            "description": "Ebixa 10mg tablets",
            "attributes": null
          },
          {
            "code": "0411000G0BBABAB",
            "description": "Ebixa 5mg/0.5ml pump actuation oral solution",
            "attributes": null
          },
          {
            "code": "0411000G0BBACAD",
            "description": "Ebixa 20mg tablets",
            "attributes": null
          },
          {
            "code": "0411000G0BBADAE",
            "description": "Ebixa tablets treatment initiation pack",
            "attributes": null
          },
          {
            "code": "0411000G0BDAAAA",
            "description": "Marixino 10mg tablets",
            "attributes": null
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          {
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            "description": "Nemdatine tablets treatment initiation pack",
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    ],
    "status": 1,
    "doi": "https://doi.org/10.48533/0v0t-qm19",
    "is_deleted": false,
    "publish_status": 2,
    "owner": "skrueger",
    "template": {
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      "name": "Clinical-Coded Phenotype",
      "description": "Phenotype definitions that are based on lists of clinical codes, or algorithms using clinical codes.",
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    },
    "versions": [
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]